18번 삼염색체증, 전위
Edwards’s syndrome
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Adult polyglucosan body disease
Adult polyglucosan body disease
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Alagille 증후군
Alagille syndrome
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Alpers 증후군
Alpers syndrome
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Alpha thalassemia
Alpha thalassemia
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Aortic aneurysm syndrome, Loeys-Dietz type
Aortic aneurysm syndrome, Loeys-Dietz type
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Arthrogryposis - renal dysfunction - cholestasis
Arthrogryposis - renal dysfunction - cholestasis
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Atypical Rett syndrome
Atypical Rett syndrome
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Autosomal dominant optic atrophy, classic type
Autosomal dominant optic atrophy, classic type
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Brugada 증후군
Brugada syndrome
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CADASIL 증후군
CADASIL syndrome
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CHARGE 증후군
CHARGE syndrome
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Costello 증후군
Costello syndrome
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Dentatorubral-pallidoluysian atrophy
Dentatorubral-pallidoluysian atrophy
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Dopa-responsive dystonia
Dopa-responsive dystonia
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Duchenne형 근육퇴행위축, Becker형 근육퇴행위축
Duchenne and Becker muscular dystrophy
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Early onset torsion dystonia
Early onset torsion dystonia
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Early-onset autosomal dominant Alzheimer disease
Early-onset autosomal dominant Alzheimer disease
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Ehlers-Danlos syndrome, vascular type
Ehlers-Danlos syndrome, vascular type
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Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
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Familial dysalbuminemic hyperthyroxinemia
Familial dysalbuminemic hyperthyroxinemia
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Familial or sporadic hemiplegic migraine
Familial or sporadic hemiplegic migraine
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Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to LAMP-2 deficiency
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Hemochromatosis type 1
Hemochromatosis type 1
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Hereditary Parkinson disease
Hereditary Parkinson disease
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Hereditary cerebral cavernous malformation
Hereditary cerebral cavernous malformation
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Hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies
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Hereditary sensory and autonomic neuropathy, type 4
Hereditary sensory and autonomic neuropathy, type 4
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Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency
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Hereditary thrombophilia due to congenital protein C deficiency
Hereditary thrombophilia due to congenital protein C deficiency
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Hereditary thrombophilia due to congenital protein S deficiency
Hereditary thrombophilia due to congenital protein S deficiency
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Hermansky-Pudlak syndrome with pulmonary fibrosis
Hermansky-Pudlak syndrome with pulmonary fibrosis
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Huntington disease-like 2
Huntington disease-like 2
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Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis
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Hypokalemic periodic paralysis
Hypokalemic periodic paralysis
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Jervell and Lange-Nielsen 증후군
Jervell and Lange-Nielsen syndrome
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Juvenile gastrointestinal polyposis
Juvenile gastrointestinal polyposis
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Kennedy disease
Kennedy disease
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Lysinuric protein intolerance
Lysinuric protein intolerance
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MELAS 증후군
MELAS syndrome
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MERRF 증후군
MERRF syndrome
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MODY 증후군
MODY syndrome
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May-Hegglin thrombocytopenia
May-Hegglin thrombocytopenia
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Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, Schmid type
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Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2
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Myoclonic dystonia
Myoclonic dystonia
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Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation
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Non rare thrombophilia
Non rare thrombophilia
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Nonsyndromic hearing loss, autosomal recessive (DFNB)
Nonsyndromic hearing loss, autosomal recessive (DFNB)
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Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency
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Pantothenate-kinase-associated neurodegeneration
Pantothenate-kinase-associated neurodegeneration
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Partial androgen insensitivity 증후군
Partial androgen insensitivity syndrome
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Peuz-Jegher 증후군
Peutz-Jeghers syndrome
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Pfeiffer 증후군
Pfeiffer syndrome
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Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis
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Progressive myoclonus epilepsy
Progressive myoclonus epilepsy
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Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 3
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Romano-Ward 증후군
Romano-Ward syndrome
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Transthyretin-related amyloidosis
Transthyretin-related amyloidosis
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X 연관 부신백질형성장애
X-linked Adrenoleukodystrophy
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X-linked Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease
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X-linked immune dysregulation - polyendocrinopathy - enteropathy
X-linked immune dysregulation - polyendocrinopathy - enteropathy
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X염색체관련 (연소기) 망막층간분리
X-linked retinoschisis
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가족성 대장 폴립증
Familial adenomatous polyposis
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가족성 혈구탐식성 림프조직구증
Familial hemophagocytic lymphohistiocytosis
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각막 이영양증
Corneal dystrophy
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갈락토오스혈증
Galactosemia
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결절성 경화증
Tuberous sclerosis
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고세 병
Gaucher`s disease
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근육위축가쪽경화증
Amyotrophic lateral sclerosis
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글루타린산뇨증
Glutaryl-CoA dehydrogenase deficiency
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급성 간헐 포르피린증
Acute intermittent porphyria
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기텔만 증후군
Gitelman syndrome
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낭성 섬유증
Cystic fibrosis
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노리 병
Norrie disease
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누난 증후군
Noonan syndrome
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눈인두근(육)디스트로피
Oculopharyngeal muscular dystrophy
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다발 선천 뼈돌출증
Multiple congenital exostoses
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다발성 골단이형성증
Multiple epiphyseal dysplasia
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다발성 골단이형성증 (제4형)
Multiple epiphyseal dysplasia type 4
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다운 증후군
Down syndrome
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두개골 유합증
Craniosynostosis
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디 죠지 증후군
Di George`s syndrome
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레버씨 선천성 시신경병증
Leber hereditary optic neuropathy
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레트 증후군
Rett syndrome
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리-프라우메니 증후군
Li-Fraumeni syndrome
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리병
Leigh disease
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마르팡 증후군
Marfan’s syndrome
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만성 골수증식성 질환
Chronic myeloproliferative disease
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망막색소변성
Retinitis pigmentosa
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멘케스병
Menkes disease
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무홍채증
Aniridia
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불완전 골형성증
Osteogenesis imperfecta
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비스코트-올드리치 증후군
Wiskott-Aldrich syndrome
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비타민 D 저항성 구루병
Vitamine-D-resistant rickets
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뾰족머리손발가락붙음증
Acrocephalosyndactyly
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상세불명의 파타우 증후군
Patau`s syndrome
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상염색체 우성 다낭성 신 증후군
Autosomal dominant polycystic kidney disease
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샤르코-마리-투스 병
Charcot-Marie-Tooth disease
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선천 근육긴장증
Steinert myotonic dystrophy
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선천 레베르 흑암시
Congenital Leber amaurosis
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선천성 근긴장증
Congenital myotonia
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선천성 무호흡 증후군
Congenital central alveolar hypoventilation
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스미스-렘리-오피쯔 증후군
Smith-Lemli-Opitz syndrome
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스티클러 증후군
Stickler syndrome
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시트룰린혈증
Citrullinemia
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얼굴어깨위팔형 근육퇴행위축
Facioscapulohumeral dystrophy
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에머리-드레이푸스 근 이영양증
Emery-Dreifuss muscular dystrophy
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엔젤만 증후군
Angelman syndrome
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여린엑스 증후군
Fragile X syndrome
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연골 발육부전
Hypochondroplasia
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연골무형성증
Achondroplasia
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연골형성저하증
Hypochondrogenesis
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월프-파킨슨-화이트 증후군
Wolff-Parkinson-White syndrome
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윌슨병
Wilson disease
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유아성 척수성 근육 위축, I 형
Spinal muscular atrophy, type I
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유전성 강직성 대 마비
Hereditary spastic paraplegia
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유전성 저 감마글로불린혈증
Hereditary hypogammaglobulinemia
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유전성 출혈성 모세혈관 확장(오슬러-웨버-렌두씨 병)
Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)
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적혈구 형성 프로토포르피린증
Erythropoietic protoporphyria
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전두측두엽 치매
Frontotemporal dementia
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제 1형 당원 축적 병
Glycogen storage disease type 1
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제 III형 당원 축적 병
Glycogen storage disease type 3
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제 II형 당원 축적 병
Glycogen storage disease type 2
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제1형 신경섬유종증
Neurofibromatosis type 1
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제2형 신경섬유종증
Neurofibromatosis type 2
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주기 호중구 감소증
Cyclic neutropenia
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중증성 지중해 빈혈
Beta-thalassemia major
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질베르 증후군
Gilbert syndrome
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척수소뇌성 실조증(제17형)
Spinocerebellar ataxia type 17
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척수소뇌성 실조증(제1형)
Spinocerebellar ataxia type 1
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척수소뇌성 실조증(제2형)
Spinocerebellar ataxia type 2
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척수소뇌성 실조증(제6형)
Spinocerebellar ataxia type 6
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척수소뇌성 실조증(제7형)
Spinocerebellar ataxia type 7
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척수소뇌성실조증(제3형)
Spinocerebellar ataxia type 3
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치사 성 난장이증
Thanatophoric short stature
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카무라티-엥겔만 병
Camurati-Engelmann disease
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크루종 병
Crouzon`s disease
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크리-두-샤 증후군
Cri du chat syndrome
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크리글러-나자르 증후군
Crigler-Najjar syndrome
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클라인펠터 증후군
Klinefelter`s syndrome
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터너 증후군
Turner’s syndrome
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판코니 빈혈
Fanconi anemia
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펜드레드 증후군
Pendred syndrome
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폰 빌레브란트 병
Von Willebrand disease
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폰힙펠-란도우병
Von Hippel-Lindau disease
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프라더 윌리 증후군
Prader-Willi syndrome
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프리드라이히 운동실조(증)
Friedreich ataxia
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헌팅톤병
Huntington disease
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